Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-08-20

AUTHORS

Michael Abbott, Lynda McKenzie, Blanca Viridiana Guizar Moran, Sebastian Heidenreich, Rodolfo Hernández, Lynne Hocking-Mennie, Caroline Clark, Joana Gomes, Anne Lampe, David Baty, Ruth McGowan, Zosia Miedzybrodzka, Mandy Ryan

ABSTRACT

Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts. More... »

PAGES

1-15

References to SciGraph publications

  • 2013-06-27. Diagnostic odyssey of patients with myotonic dystrophy in JOURNAL OF NEUROLOGY
  • 2018-02-13. Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-05-14. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature in GENETICS IN MEDICINE
  • 2018-04-12. Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder in APPLIED HEALTH ECONOMICS AND HEALTH POLICY
  • 2021-01-16. Valuing genetic and genomic testing in France: current challenges and latest evidence in JOURNAL OF COMMUNITY GENETICS
  • 2019-05-21. Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes in GENETICS IN MEDICINE
  • 2019-02-01. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-01-30. Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-09-03. Rare-disease genetics in the era of next-generation sequencing: discovery to translation in NATURE REVIEWS GENETICS
  • 2019-07-05. Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges in JOURNAL OF COMMUNITY GENETICS
  • 2019-09-05. Opening the ‘Black Box’: An Overview of Methods to Investigate the Decision-Making Process in Choice-Based Surveys in THE PATIENT - PATIENT-CENTERED OUTCOMES RESEARCH
  • 2021-04-26. Toward the diagnosis of rare childhood genetic diseases: what do parents value most? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-06-26. The value of diagnostic testing for parents of children with rare genetic diseases in GENETICS IN MEDICINE
  • 2016-07-05. Cost analysis of whole genome sequencing in German clinical practice in THE EUROPEAN JOURNAL OF HEALTH ECONOMICS
  • 2016-02-04. Should states adopt newborn screening for early infantile Krabbe disease? in GENETICS IN MEDICINE
  • 2018-02-15. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature in GENETICS IN MEDICINE
  • 2018-05-25. Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-01-22. Cost-effectiveness analyses of genetic and genomic diagnostic tests in NATURE REVIEWS GENETICS
  • 2016-05-11. Patients’ Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic Leukaemia: A Discrete Choice Experiment in THE PATIENT - PATIENT-CENTERED OUTCOMES RESEARCH
  • 2017-05-04. A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder in GENETICS IN MEDICINE
  • 2013-05-30. Return of incidental findings in genomic medicine: measuring what patients value—development of an instrument to measure preferences for information from next-generation testing (IMPRINT) in GENETICS IN MEDICINE
  • 2020-02-10. Finding Out What Matters in Decision-Making Related to Genomics and Personalized Medicine in Pediatric Oncology: Developing Attributes to Include in a Discrete Choice Experiment in THE PATIENT - PATIENT-CENTERED OUTCOMES RESEARCH
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s12687-021-00541-4

    DOI

    http://dx.doi.org/10.1007/s12687-021-00541-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1140550515

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34415556


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.7107.1", 
              "name": [
                "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Abbott", 
            "givenName": "Michael", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.7107.1", 
              "name": [
                "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McKenzie", 
            "givenName": "Lynda", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.7107.1", 
              "name": [
                "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moran", 
            "givenName": "Blanca Viridiana Guizar", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Evidera Inc., London, UK", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK", 
                "Evidera Inc., London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Heidenreich", 
            "givenName": "Sebastian", 
            "id": "sg:person.016150214271.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016150214271.86"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.7107.1", 
              "name": [
                "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hern\u00e1ndez", 
            "givenName": "Rodolfo", 
            "id": "sg:person.015535642532.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015535642532.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, University of Aberdeen, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.7107.1", 
              "name": [
                "Department of Medical Genetics, University of Aberdeen, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hocking-Mennie", 
            "givenName": "Lynne", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.417581.e", 
              "name": [
                "Department of Medical Genetics, University of Aberdeen, Aberdeen, UK", 
                "NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Clark", 
            "givenName": "Caroline", 
            "id": "sg:person.01246004105.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246004105.37"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.417581.e", 
              "name": [
                "NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gomes", 
            "givenName": "Joana", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK", 
              "id": "http://www.grid.ac/institutes/grid.417068.c", 
              "name": [
                "South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lampe", 
            "givenName": "Anne", 
            "id": "sg:person.01204726310.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204726310.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "NHS Tayside Regional Genetics Service, Ninewells Hospital, Dundee, UK", 
              "id": "http://www.grid.ac/institutes/grid.416266.1", 
              "name": [
                "NHS Tayside Regional Genetics Service, Ninewells Hospital, Dundee, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baty", 
            "givenName": "David", 
            "id": "sg:person.016461316604.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016461316604.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "South East Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "South East Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McGowan", 
            "givenName": "Ruth", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Evidera Inc., London, UK", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Evidera Inc., London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Miedzybrodzka", 
            "givenName": "Zosia", 
            "id": "sg:person.015543264761.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015543264761.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK", 
              "id": "http://www.grid.ac/institutes/grid.7107.1", 
              "name": [
                "Health Economics Research Unit, University of Aberdeen, Aberdeen, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ryan", 
            "givenName": "Mandy", 
            "id": "sg:person.01160123230.49", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160123230.49"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1007/s40271-016-0172-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028068769", 
              "https://doi.org/10.1007/s40271-016-0172-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-020-0575-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1124425519", 
              "https://doi.org/10.1038/s41431-020-0575-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-018-0161-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1104238036", 
              "https://doi.org/10.1038/s41431-018-0161-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.47", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085139550", 
              "https://doi.org/10.1038/gim.2017.47"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s40258-018-0390-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103234532", 
              "https://doi.org/10.1007/s40258-018-0390-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41436-019-0534-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1114949995", 
              "https://doi.org/10.1038/s41436-019-0534-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00415-013-6993-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036506985", 
              "https://doi.org/10.1007/s00415-013-6993-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41436-019-0583-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1117489351", 
              "https://doi.org/10.1038/s41436-019-0583-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12687-020-00503-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1134632040", 
              "https://doi.org/10.1007/s12687-020-00503-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg3555", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001268995", 
              "https://doi.org/10.1038/nrg3555"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-021-00882-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1137486807", 
              "https://doi.org/10.1038/s41431-021-00882-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-018-0332-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111837565", 
              "https://doi.org/10.1038/s41431-018-0332-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10198-016-0815-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014175002", 
              "https://doi.org/10.1007/s10198-016-0815-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s40271-020-00411-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1124769141", 
              "https://doi.org/10.1007/s40271-020-00411-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s40271-019-00385-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1120845514", 
              "https://doi.org/10.1007/s40271-019-00385-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2013.63", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050654944", 
              "https://doi.org/10.1038/gim.2013.63"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg.2017.108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1100552070", 
              "https://doi.org/10.1038/nrg.2017.108"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2016.6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020213943", 
              "https://doi.org/10.1038/gim.2016.6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41436-018-0024-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103970382", 
              "https://doi.org/10.1038/s41436-018-0024-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.247", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101040746", 
              "https://doi.org/10.1038/gim.2017.247"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-018-0106-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101005585", 
              "https://doi.org/10.1038/s41431-018-0106-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s12687-019-00428-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1117765000", 
              "https://doi.org/10.1007/s12687-019-00428-5"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2021-08-20", 
        "datePublishedReg": "2021-08-20", 
        "description": "Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of \u00a31,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost \u00a36625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost\u2013benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.", 
        "genre": "article", 
        "id": "sg:pub.10.1007/s12687-021-00541-4", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1044626", 
            "issn": [
              "1868-310X", 
              "1868-6001"
            ], 
            "name": "Journal of Community Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }
        ], 
        "keywords": [
          "economic evaluation", 
          "non-health outcomes", 
          "cost-benefit analysis", 
          "cost-effectiveness analysis", 
          "subsequent economic evaluation", 
          "valuation studies", 
          "large cost savings", 
          "average cost", 
          "value assessment", 
          "strategic development", 
          "cost savings", 
          "cost", 
          "impact modelling", 
          "costing", 
          "benefits", 
          "savings", 
          "future research", 
          "different contexts", 
          "use of WGS", 
          "context", 
          "estimates", 
          "services", 
          "similar evaluation", 
          "development", 
          "research", 
          "providers", 
          "insights", 
          "analysis", 
          "health providers", 
          "Scotland", 
          "chance", 
          "contribution", 
          "modelling", 
          "testing pathway", 
          "testing services", 
          "project", 
          "information", 
          "setting", 
          "evaluation", 
          "study", 
          "outcomes", 
          "limitations", 
          "genomic medicine", 
          "users", 
          "use", 
          "assessment", 
          "conditions", 
          "genetic testing services", 
          "family", 
          "variability", 
          "significant variability", 
          "current study", 
          "novel developments", 
          "diagnostic odyssey", 
          "Odyssey", 
          "medicine", 
          "testing", 
          "rare disease", 
          "singletons", 
          "clinical genetic testing services", 
          "incorporation", 
          "whole-genome sequencing", 
          "routine clinical setting", 
          "standard genetic testing", 
          "trios", 
          "benefits of WGS", 
          "rare condition", 
          "clinical setting", 
          "genetic testing", 
          "diagnosis", 
          "patients", 
          "length", 
          "disease", 
          "genome sequencing", 
          "genome-wide sequencing", 
          "family trios", 
          "genomic sequencing", 
          "sequencing", 
          "partnership study", 
          "phenotype", 
          "pathway", 
          "sequence", 
          "singleton standard genetic testing", 
          "trio-based whole genome sequencing", 
          "Scottish Genomes Partnership (SGP) study", 
          "Genomes Partnership (SGP) study", 
          "standard genetic testing pathway", 
          "genetic testing pathway", 
          "WGS cost", 
          "SGP project", 
          "budget impact modelling", 
          "discrete choice experiment valuation study", 
          "choice experiment valuation study", 
          "experiment valuation study", 
          "user-perspective cost\u2013benefit analysis", 
          "broader non-health outcomes", 
          "long-term strategic development", 
          "NHS Scotland clinical genetics testing services", 
          "Scotland clinical genetics testing services"
        ], 
        "name": "Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland", 
        "pagination": "1-15", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1140550515"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s12687-021-00541-4"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "34415556"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s12687-021-00541-4", 
          "https://app.dimensions.ai/details/publication/pub.1140550515"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:57", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_876.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1007/s12687-021-00541-4"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s12687-021-00541-4'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s12687-021-00541-4'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12687-021-00541-4'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12687-021-00541-4'


     

    This table displays all metadata directly associated to this object as RDF triples.

    339 TRIPLES      22 PREDICATES      145 URIs      115 LITERALS      5 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s12687-021-00541-4 schema:about anzsrc-for:06
    2 anzsrc-for:0604
    3 schema:author Nb2d66a8ecee44805b54f21404a5aecba
    4 schema:citation sg:pub.10.1007/s00415-013-6993-0
    5 sg:pub.10.1007/s10198-016-0815-0
    6 sg:pub.10.1007/s12687-019-00428-5
    7 sg:pub.10.1007/s12687-020-00503-2
    8 sg:pub.10.1007/s40258-018-0390-x
    9 sg:pub.10.1007/s40271-016-0172-1
    10 sg:pub.10.1007/s40271-019-00385-8
    11 sg:pub.10.1007/s40271-020-00411-0
    12 sg:pub.10.1038/gim.2013.63
    13 sg:pub.10.1038/gim.2016.6
    14 sg:pub.10.1038/gim.2017.247
    15 sg:pub.10.1038/gim.2017.47
    16 sg:pub.10.1038/nrg.2017.108
    17 sg:pub.10.1038/nrg3555
    18 sg:pub.10.1038/s41431-018-0106-6
    19 sg:pub.10.1038/s41431-018-0161-z
    20 sg:pub.10.1038/s41431-018-0332-y
    21 sg:pub.10.1038/s41431-020-0575-2
    22 sg:pub.10.1038/s41431-021-00882-1
    23 sg:pub.10.1038/s41436-018-0024-6
    24 sg:pub.10.1038/s41436-019-0534-x
    25 sg:pub.10.1038/s41436-019-0583-1
    26 schema:datePublished 2021-08-20
    27 schema:datePublishedReg 2021-08-20
    28 schema:description Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.
    29 schema:genre article
    30 schema:inLanguage en
    31 schema:isAccessibleForFree true
    32 schema:isPartOf sg:journal.1044626
    33 schema:keywords Genomes Partnership (SGP) study
    34 NHS Scotland clinical genetics testing services
    35 Odyssey
    36 SGP project
    37 Scotland
    38 Scotland clinical genetics testing services
    39 Scottish Genomes Partnership (SGP) study
    40 WGS cost
    41 analysis
    42 assessment
    43 average cost
    44 benefits
    45 benefits of WGS
    46 broader non-health outcomes
    47 budget impact modelling
    48 chance
    49 choice experiment valuation study
    50 clinical genetic testing services
    51 clinical setting
    52 conditions
    53 context
    54 contribution
    55 cost
    56 cost savings
    57 cost-benefit analysis
    58 cost-effectiveness analysis
    59 costing
    60 current study
    61 development
    62 diagnosis
    63 diagnostic odyssey
    64 different contexts
    65 discrete choice experiment valuation study
    66 disease
    67 economic evaluation
    68 estimates
    69 evaluation
    70 experiment valuation study
    71 family
    72 family trios
    73 future research
    74 genetic testing
    75 genetic testing pathway
    76 genetic testing services
    77 genome sequencing
    78 genome-wide sequencing
    79 genomic medicine
    80 genomic sequencing
    81 health providers
    82 impact modelling
    83 incorporation
    84 information
    85 insights
    86 large cost savings
    87 length
    88 limitations
    89 long-term strategic development
    90 medicine
    91 modelling
    92 non-health outcomes
    93 novel developments
    94 outcomes
    95 partnership study
    96 pathway
    97 patients
    98 phenotype
    99 project
    100 providers
    101 rare condition
    102 rare disease
    103 research
    104 routine clinical setting
    105 savings
    106 sequence
    107 sequencing
    108 services
    109 setting
    110 significant variability
    111 similar evaluation
    112 singleton standard genetic testing
    113 singletons
    114 standard genetic testing
    115 standard genetic testing pathway
    116 strategic development
    117 study
    118 subsequent economic evaluation
    119 testing
    120 testing pathway
    121 testing services
    122 trio-based whole genome sequencing
    123 trios
    124 use
    125 use of WGS
    126 user-perspective cost–benefit analysis
    127 users
    128 valuation studies
    129 value assessment
    130 variability
    131 whole-genome sequencing
    132 schema:name Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland
    133 schema:pagination 1-15
    134 schema:productId N23a58ef4787045cbacf3c2997bf5824d
    135 N8d0e261c969f4a8486c2b91d55f3640d
    136 Nba180c98adc24d3ba79939a5faf84ae8
    137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1140550515
    138 https://doi.org/10.1007/s12687-021-00541-4
    139 schema:sdDatePublished 2022-01-01T18:57
    140 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    141 schema:sdPublisher Nf791d7dfc90c4372a3e8359378e2e7e2
    142 schema:url https://doi.org/10.1007/s12687-021-00541-4
    143 sgo:license sg:explorer/license/
    144 sgo:sdDataset articles
    145 rdf:type schema:ScholarlyArticle
    146 N0992794ad0404ef0bc17bf41874bdc4c rdf:first Ndefccb3f705448e69be25be961a3c16b
    147 rdf:rest N39ba616de699401c887339aa4df4c4f6
    148 N23a58ef4787045cbacf3c2997bf5824d schema:name dimensions_id
    149 schema:value pub.1140550515
    150 rdf:type schema:PropertyValue
    151 N27b940d8563b4cf79b2ed088e7e1c4a8 rdf:first N4aa868a11e754d67bef426cd5f67b398
    152 rdf:rest Nba3bd9e98ba442329a597d8550974802
    153 N39ba616de699401c887339aa4df4c4f6 rdf:first sg:person.01204726310.17
    154 rdf:rest Nb5ac124832af4fbb9943a5b8179452a7
    155 N4693594a0cb34ed29e50564a28800452 schema:affiliation grid-institutes:grid.7107.1
    156 schema:familyName Moran
    157 schema:givenName Blanca Viridiana Guizar
    158 rdf:type schema:Person
    159 N4aa868a11e754d67bef426cd5f67b398 schema:affiliation grid-institutes:grid.7107.1
    160 schema:familyName Hocking-Mennie
    161 schema:givenName Lynne
    162 rdf:type schema:Person
    163 N4eac4849195b4a7783d02e3d34b0c82c rdf:first sg:person.015535642532.32
    164 rdf:rest N27b940d8563b4cf79b2ed088e7e1c4a8
    165 N5cc16b980dc4477da7149791d3ae045c rdf:first sg:person.016150214271.86
    166 rdf:rest N4eac4849195b4a7783d02e3d34b0c82c
    167 N6772be7f5997454d975824d96fb3672d rdf:first Nd992fa46cbf14e7d86b66ce675602636
    168 rdf:rest N9366c941aed243a292c3c0e675d1762f
    169 N8d0e261c969f4a8486c2b91d55f3640d schema:name doi
    170 schema:value 10.1007/s12687-021-00541-4
    171 rdf:type schema:PropertyValue
    172 N9366c941aed243a292c3c0e675d1762f rdf:first sg:person.015543264761.71
    173 rdf:rest Nf59c4c35b3844749af903329e7b56b05
    174 Nb2d66a8ecee44805b54f21404a5aecba rdf:first Nff06cc7dd32947638fc0b0742109f420
    175 rdf:rest Ne84dd16fb9c14e9ba6c1dd89860a945e
    176 Nb5ac124832af4fbb9943a5b8179452a7 rdf:first sg:person.016461316604.15
    177 rdf:rest N6772be7f5997454d975824d96fb3672d
    178 Nba180c98adc24d3ba79939a5faf84ae8 schema:name pubmed_id
    179 schema:value 34415556
    180 rdf:type schema:PropertyValue
    181 Nba3bd9e98ba442329a597d8550974802 rdf:first sg:person.01246004105.37
    182 rdf:rest N0992794ad0404ef0bc17bf41874bdc4c
    183 Nd1adf2c8dc514896a410e2b450650629 schema:affiliation grid-institutes:grid.7107.1
    184 schema:familyName McKenzie
    185 schema:givenName Lynda
    186 rdf:type schema:Person
    187 Nd992fa46cbf14e7d86b66ce675602636 schema:affiliation grid-institutes:None
    188 schema:familyName McGowan
    189 schema:givenName Ruth
    190 rdf:type schema:Person
    191 Ndefccb3f705448e69be25be961a3c16b schema:affiliation grid-institutes:grid.417581.e
    192 schema:familyName Gomes
    193 schema:givenName Joana
    194 rdf:type schema:Person
    195 Ne84dd16fb9c14e9ba6c1dd89860a945e rdf:first Nd1adf2c8dc514896a410e2b450650629
    196 rdf:rest Nf8831b41cb114d1c965165d9e5f9d52d
    197 Nf59c4c35b3844749af903329e7b56b05 rdf:first sg:person.01160123230.49
    198 rdf:rest rdf:nil
    199 Nf791d7dfc90c4372a3e8359378e2e7e2 schema:name Springer Nature - SN SciGraph project
    200 rdf:type schema:Organization
    201 Nf8831b41cb114d1c965165d9e5f9d52d rdf:first N4693594a0cb34ed29e50564a28800452
    202 rdf:rest N5cc16b980dc4477da7149791d3ae045c
    203 Nff06cc7dd32947638fc0b0742109f420 schema:affiliation grid-institutes:grid.7107.1
    204 schema:familyName Abbott
    205 schema:givenName Michael
    206 rdf:type schema:Person
    207 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    208 schema:name Biological Sciences
    209 rdf:type schema:DefinedTerm
    210 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    211 schema:name Genetics
    212 rdf:type schema:DefinedTerm
    213 sg:journal.1044626 schema:issn 1868-310X
    214 1868-6001
    215 schema:name Journal of Community Genetics
    216 schema:publisher Springer Nature
    217 rdf:type schema:Periodical
    218 sg:person.01160123230.49 schema:affiliation grid-institutes:grid.7107.1
    219 schema:familyName Ryan
    220 schema:givenName Mandy
    221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160123230.49
    222 rdf:type schema:Person
    223 sg:person.01204726310.17 schema:affiliation grid-institutes:grid.417068.c
    224 schema:familyName Lampe
    225 schema:givenName Anne
    226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204726310.17
    227 rdf:type schema:Person
    228 sg:person.01246004105.37 schema:affiliation grid-institutes:grid.417581.e
    229 schema:familyName Clark
    230 schema:givenName Caroline
    231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246004105.37
    232 rdf:type schema:Person
    233 sg:person.015535642532.32 schema:affiliation grid-institutes:grid.7107.1
    234 schema:familyName Hernández
    235 schema:givenName Rodolfo
    236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015535642532.32
    237 rdf:type schema:Person
    238 sg:person.015543264761.71 schema:affiliation grid-institutes:None
    239 schema:familyName Miedzybrodzka
    240 schema:givenName Zosia
    241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015543264761.71
    242 rdf:type schema:Person
    243 sg:person.016150214271.86 schema:affiliation grid-institutes:None
    244 schema:familyName Heidenreich
    245 schema:givenName Sebastian
    246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016150214271.86
    247 rdf:type schema:Person
    248 sg:person.016461316604.15 schema:affiliation grid-institutes:grid.416266.1
    249 schema:familyName Baty
    250 schema:givenName David
    251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016461316604.15
    252 rdf:type schema:Person
    253 sg:pub.10.1007/s00415-013-6993-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036506985
    254 https://doi.org/10.1007/s00415-013-6993-0
    255 rdf:type schema:CreativeWork
    256 sg:pub.10.1007/s10198-016-0815-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014175002
    257 https://doi.org/10.1007/s10198-016-0815-0
    258 rdf:type schema:CreativeWork
    259 sg:pub.10.1007/s12687-019-00428-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1117765000
    260 https://doi.org/10.1007/s12687-019-00428-5
    261 rdf:type schema:CreativeWork
    262 sg:pub.10.1007/s12687-020-00503-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1134632040
    263 https://doi.org/10.1007/s12687-020-00503-2
    264 rdf:type schema:CreativeWork
    265 sg:pub.10.1007/s40258-018-0390-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1103234532
    266 https://doi.org/10.1007/s40258-018-0390-x
    267 rdf:type schema:CreativeWork
    268 sg:pub.10.1007/s40271-016-0172-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028068769
    269 https://doi.org/10.1007/s40271-016-0172-1
    270 rdf:type schema:CreativeWork
    271 sg:pub.10.1007/s40271-019-00385-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1120845514
    272 https://doi.org/10.1007/s40271-019-00385-8
    273 rdf:type schema:CreativeWork
    274 sg:pub.10.1007/s40271-020-00411-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1124769141
    275 https://doi.org/10.1007/s40271-020-00411-0
    276 rdf:type schema:CreativeWork
    277 sg:pub.10.1038/gim.2013.63 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050654944
    278 https://doi.org/10.1038/gim.2013.63
    279 rdf:type schema:CreativeWork
    280 sg:pub.10.1038/gim.2016.6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020213943
    281 https://doi.org/10.1038/gim.2016.6
    282 rdf:type schema:CreativeWork
    283 sg:pub.10.1038/gim.2017.247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101040746
    284 https://doi.org/10.1038/gim.2017.247
    285 rdf:type schema:CreativeWork
    286 sg:pub.10.1038/gim.2017.47 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085139550
    287 https://doi.org/10.1038/gim.2017.47
    288 rdf:type schema:CreativeWork
    289 sg:pub.10.1038/nrg.2017.108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100552070
    290 https://doi.org/10.1038/nrg.2017.108
    291 rdf:type schema:CreativeWork
    292 sg:pub.10.1038/nrg3555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001268995
    293 https://doi.org/10.1038/nrg3555
    294 rdf:type schema:CreativeWork
    295 sg:pub.10.1038/s41431-018-0106-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101005585
    296 https://doi.org/10.1038/s41431-018-0106-6
    297 rdf:type schema:CreativeWork
    298 sg:pub.10.1038/s41431-018-0161-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1104238036
    299 https://doi.org/10.1038/s41431-018-0161-z
    300 rdf:type schema:CreativeWork
    301 sg:pub.10.1038/s41431-018-0332-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1111837565
    302 https://doi.org/10.1038/s41431-018-0332-y
    303 rdf:type schema:CreativeWork
    304 sg:pub.10.1038/s41431-020-0575-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1124425519
    305 https://doi.org/10.1038/s41431-020-0575-2
    306 rdf:type schema:CreativeWork
    307 sg:pub.10.1038/s41431-021-00882-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1137486807
    308 https://doi.org/10.1038/s41431-021-00882-1
    309 rdf:type schema:CreativeWork
    310 sg:pub.10.1038/s41436-018-0024-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103970382
    311 https://doi.org/10.1038/s41436-018-0024-6
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1038/s41436-019-0534-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1114949995
    314 https://doi.org/10.1038/s41436-019-0534-x
    315 rdf:type schema:CreativeWork
    316 sg:pub.10.1038/s41436-019-0583-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1117489351
    317 https://doi.org/10.1038/s41436-019-0583-1
    318 rdf:type schema:CreativeWork
    319 grid-institutes:None schema:alternateName Evidera Inc., London, UK
    320 South East Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK
    321 schema:name Evidera Inc., London, UK
    322 Health Economics Research Unit, University of Aberdeen, Aberdeen, UK
    323 South East Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK
    324 rdf:type schema:Organization
    325 grid-institutes:grid.416266.1 schema:alternateName NHS Tayside Regional Genetics Service, Ninewells Hospital, Dundee, UK
    326 schema:name NHS Tayside Regional Genetics Service, Ninewells Hospital, Dundee, UK
    327 rdf:type schema:Organization
    328 grid-institutes:grid.417068.c schema:alternateName South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK
    329 schema:name South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK
    330 rdf:type schema:Organization
    331 grid-institutes:grid.417581.e schema:alternateName NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK
    332 schema:name Department of Medical Genetics, University of Aberdeen, Aberdeen, UK
    333 NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK
    334 rdf:type schema:Organization
    335 grid-institutes:grid.7107.1 schema:alternateName Department of Medical Genetics, University of Aberdeen, Aberdeen, UK
    336 Health Economics Research Unit, University of Aberdeen, Aberdeen, UK
    337 schema:name Department of Medical Genetics, University of Aberdeen, Aberdeen, UK
    338 Health Economics Research Unit, University of Aberdeen, Aberdeen, UK
    339 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...